KAT6 Syndromes by CheckRare Staff| Published on: Sep 24, 2026

KAT6 Syndromes by CheckRare Staff| Published on: Sep 24, 2026 KAT6 syndromes are rare genetic neurodevelopmental disorders caused by genetic mutations in the KAT6A or KAT6B genes. KAT6 syndromes are characterized by speech and motor delay, low muscle tone, feeding or gastrointestinal issues, sleep challenges, and vision issues in early childhood. Neurological findings, such as seizures or brain structure differences, are also common. While patients with KAT6A and KAT6B syndromes share many similarities each syndrome also has its own set of unique traits. For example, children with KAT6B are more likely to have distinct skeletal or joint differences, including joint contractures, limb differences, or kneecap abnormalities. https://checkrare.com/kat6-syndromes/